University of Calgary, Calgary, AB, Canada.
J Cutan Med Surg. 2013 May-Jun;17(3):212-8. doi: 10.2310/7750.2011.11017.
Ulerythema ophryogenes (also known as keratosis pilaris atrophicans faciei) is a rarely reported cutaneous manifestation of Noonan syndrome.
Recognizing ulerythema ophryogenes as a cutaneous association in Noonan syndrome may aid in the diagnosis of this relatively common genetic condition.
We present a case of a patient with Noonan syndrome and ulerythema ophryogenes associated with a SOS1 mutation and review the literature on this association.
To the best of our knowledge, this is the second case of Noonan syndrome proven to be due to an SOS1 mutation in which ulerythema ophryogenes was clinically recognized and specifically diagnosed.
The presence of ulerythema ophryogenes in a patient with Noonan syndrome increases the likelihood of a SOS1 mutation. Further reports by dermatologists and medical geneticists documenting ulerythema ophryogenes and not just descriptions of sparse or absent eyebrows will help support this genotype-phenotype correlation.
红斑性眶周假皮病（也称为颜面进行性毛囊角化病）是一种罕见的努南综合征皮肤表现。
认识到红斑性眶周假皮病是努南综合征的一种皮肤关联，可能有助于诊断这种相对常见的遗传疾病。
我们介绍了一例患有红斑性眶周假皮病的努南综合征患者，该患者存在 SOS1 突变，并对该关联的文献进行了综述。
据我们所知，这是第二例经证实为 SOS1 突变导致的努南综合征病例，其中红斑性眶周假皮病在临床上被识别并明确诊断。
红斑性眶周假皮病存在于努南综合征患者中，增加了 SOS1 突变的可能性。皮肤科医生和医学遗传学家进一步报告红斑性眶周假皮病的存在，而不仅仅是稀疏或无眉毛的描述，将有助于支持这种基因型-表型相关性。
